Linked Data
ClinVar Variation Id:
350544
ClinVar RCV Id:
RCV000320250
dbSNP Id:
rs744722
gnomAD v2:
5-125878908-C-A
gnomAD v3:
5-126543216-C-A
gnomAD v4:
5-126543216-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.126543216C>A , CM000667.2:g.126543216C>A | GRCh38 |
| NC_000005.9:g.125878908C>A , CM000667.1:g.125878908C>A | GRCh37 |
| NC_000005.8:g.125906807C>A | NCBI36 |
| NG_008600.2:g.57175G>T | |
| NG_008600.3:g.57175G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409134.8:c.*1749G>T MANE Select | ENSP00000387123.3:n.*1749G>T | |
| ENST00000635851.1:c.1564-2228G>T | ||
| ENST00000637782.1:c.1565+3108G>T | ENSP00000490024.1:n.1565+3108G>T | |
| ENST00000409134.7:c.*1749G>T | ENSP00000387123.3:n.*1749G>T | |
| ENST00000447989.6:c.*1749G>T | ENSP00000414132.2:n.*1749G>T | |
| NM_001182.4:c.*1749G>T | NP_001173.2:n.*1749G>T | |
| NM_001201377.1:c.*1749G>T | NP_001188306.1:n.*1749G>T | |
| NM_001202404.1:c.*1749G>T | NP_001189333.1:n.*1749G>T | |
| NM_001182.5:c.*1749G>T MANE Select | NP_001173.2:n.*1749G>T | |
| NM_001201377.2:c.*1749G>T | NP_001188306.1:n.*1749G>T | |
| NM_001202404.2:c.*1749G>T | NP_001189333.2:n.*1749G>T |